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01-11-2019 | Disorders of Intellectual Development | Letter to the Editor

GRIN2A: involvement in movement disorders and intellectual disability without seizures

Authors: Antonio Gennaro Nicotera, Francesco Calì, Mirella Vinci, Sebastiano Antonino Musumeci

Published in: Neurological Sciences | Issue 11/2019

Excerpt

The GRIN2A gene codes for the GluN2A subunit of N-Methyl-D-aspartate receptors (NMDARs) [1]. Inherited and de novo GRIN2A mutations are associated with Landau–Kleffner syndrome, continuous spike and wave during slow-wave sleep syndrome (CSWSS), atypical rolandic epilepsy, and speech impairment [2]. Recently, Fernandez-Marmiesse et al. [3] suggested that the phenotypic spectrum of GRIN2A-related disorders can also include neurodevelopmental and movement disorders without seizures. …

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Burnashevand N, Szepetowski P (2015) NMDA receptor subunit mutations in neurodevelopmental disorders. Curr Opin Pharmacol 20:73–82CrossRef

Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P (2013) GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet 45:1061–1066CrossRef

Fernández-Marmiesse A, Kusumoto H, Rekarte S et al (2018) A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder. Mov Disord 32:778–782

Chang X, Wang K (2012) wANNOVAR: annotating genetic 202 variants for personal genomes via the web. J Med Genet 49(7):433–436CrossRef

Cloarec R, Bruneau N, Rudolf G, Massacrier A, Salmi M, Bataillard M, Boulay C, Caraballo R, Fejerman N, Genton P, Hirsch E, Hunter A, Lesca G, Motte J, Roubertie A, Sanlaville D, Wong SW, Fu YH, Rochette J, Ptacek LJ, Szepetowski P (2012) PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurol 79(21):2097–2103CrossRef

Title: GRIN2A: involvement in movement disorders and intellectual disability without seizures
Authors: Antonio Gennaro Nicotera
Francesco Calì
Mirella Vinci
Sebastiano Antonino Musumeci
Publication date: 01-11-2019
Publisher: Springer International Publishing
Keywords: Disorders of Intellectual Development
Magnetic Resonance Imaging
Magnetic Resonance Imaging
Intellectual Disability
Movement Disorder
Published in: Neurological Sciences / Issue 11/2019
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-019-03923-2

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GRIN2A: involvement in movement disorders and intellectual disability without seizures

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